Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mariaelena Valentino"'
Publikováno v:
Genes and Diseases, Vol 8, Iss 6, Pp 798-813 (2021)
The programmed cell death 10 (PDCD10) gene was originally identified as an apoptosis-related gene, although it is now usually known as CCM3, as the third causative gene of cerebral cavernous malformation (CCM). CCM is a neurovascular disease that is
Externí odkaz:
https://doaj.org/article/353f00b2bf8c4b7896e68377e8166619
Autor:
Matteo Malinverno, Claudio Maderna, Abdallah Abu Taha, Monica Corada, Fabrizio Orsenigo, Mariaelena Valentino, Federica Pisati, Carmela Fusco, Paolo Graziano, Monica Giannotta, Qing Cissy Yu, Yi Arial Zeng, Maria Grazia Lampugnani, Peetra U. Magnusson, Elisabetta Dejana
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Cerebral cavernous malformation is a vascular disease characterized by capillary-venous cavernomas in the central nervous system. Here the authors show that cavernomas display benign tumor characteristics and originate from the clonal expansion of mu
Externí odkaz:
https://doaj.org/article/697db73cfa424b9ba46d1f4d22882162
Autor:
Stefania Filosa, Jesper Christensen, Cheryl Shoubridge, Maria Giuseppina Miano, Agnese Padula, Lucia Altucci, Kristian Helin, Elia Di Schiavi, Lucia Verrillo, Loredana Poeta, Benedetta Attianese, Jozef Gecz, Mariaelena Valentino, Hans van Bokhoven, Maria Brigida Lioi, Patrick Collombat, Charles E. Schwartz, Adriano Barra
Publikováno v:
Human molecular genetics
28 (2019): 4089–4102. doi:10.1093/hmg/ddz254
info:cnr-pdr/source/autori:Poeta L, Padula A, Attianese B, Valentino M, Verrillo L, Filosa S, Shoubridge C, Barra A, Schwartz CE, Christensen J, van Bokhoven H, Helin K, Lioi MB, Collombat P, Gecz J, Altucci L, Di Schiavi E, Miano MG./titolo:Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders./doi:10.1093%2Fhmg%2Fddz254/rivista:Human molecular genetics (Print)/anno:2019/pagina_da:4089/pagina_a:4102/intervallo_pagine:4089–4102/volume:28
Hum Mol Genet
28 (2019): 4089–4102. doi:10.1093/hmg/ddz254
info:cnr-pdr/source/autori:Poeta L, Padula A, Attianese B, Valentino M, Verrillo L, Filosa S, Shoubridge C, Barra A, Schwartz CE, Christensen J, van Bokhoven H, Helin K, Lioi MB, Collombat P, Gecz J, Altucci L, Di Schiavi E, Miano MG./titolo:Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders./doi:10.1093%2Fhmg%2Fddz254/rivista:Human molecular genetics (Print)/anno:2019/pagina_da:4089/pagina_a:4102/intervallo_pagine:4089–4102/volume:28
Hum Mol Genet
A disproportional large number of neurodevelopmental disorders (NDDs) is caused by variants in genes encoding transcription factors and chromatin modifiers. However, the functional interactions between the corresponding proteins are only partly known
Autor:
Fabrizio Orsenigo, Maria Grazia Lampugnani, Matteo Malinverno, Federica Pisati, Abdallah Abu Taha, Peetra U. Magnusson, Monica Corada, Monica Giannotta, Yi Arial Zeng, Claudio Maderna, Carmela Fusco, Mariaelena Valentino, Qing Cissy Yu, Paolo Graziano, Elisabetta Dejana
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications
Nature Communications
Cerebral cavernous malformation (CCM) is a neurovascular familial or sporadic disease that is characterised by capillary-venous cavernomas, and is due to loss-of-function mutations to any one of three CCM genes. Familial CCM follows a two-hit mechani